Varaico: Literature-Extracted Genetic Variants

EPHA1

256 papers

RefSeq Summary

This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nerv...

Pfam Domains

Ephrin_lbdaa 28–204UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 205–264UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 267–312UCSCTyrosine-protein kinase ephrin type A/B receptor-like

fn3aa 334–437UCSCFibronectin type III domain

fn3aa 450–534UCSCFibronectin type III domain

EphA2_TMaa 548–621UCSCEphrin type-A receptor 2 transmembrane domain

Gene Aliases

HGNC Name

EPH receptor A1

HGNC Previous Symbols

EPHT; EPHT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_005232.5

p.V600E

c.1799T>A

Surrounding Variants

1 paper

NM_005232.5

p.A612T

c.1834G>A

1 paper

NM_005232.5

p.L613L

c.1837C>T

1 paper

NM_005232.5

p.R617Q

c.1850G>A

1 paper

NM_005232.5

p.T628fs

c.1882_1883fs

1 paper

NM_005232.5

p.T628delFs

c.1883_1884delAG

1 paper

NM_005232.5

p.G631R

c.1891G>A

1 paper

NM_005232.5

p.E632G

c.1895A>G

1 paper

NM_005232.5

p.E591Splc

c.1771+7C>T

1 paper

NM_005232.5

p.R590*

c.1768C>T

3 papers

NM_005232.5

p.R584C

c.1750C>T

1 paper

NM_005232.5

p.R584S

c.1750C>A

1 paper

NM_005232.5

p.R572I

c.1715G>T